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少症状性缺指(趾)-外胚层发育不良-腭裂综合征患者的口腔健康考量

Oral health considerations in a patient with oligosymptomatic ectrodactyly-ectodermal dysplasia-cleft syndrome.

作者信息

Sharma Gaurav, Nagpal Archna

出版信息

Gen Dent. 2017 Mar-Apr;65(2):66-69.

PMID:28253185
Abstract

Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome-a complex, pleiotropic disorder resulting in multiple congenital anomalies-has an unpredictable clinical expression and is typically manifested as an autosomal-dominant trait. This article presents a rare case of oligosymptomatic EEC syndrome in a 19-year-old man who exhibited atypical dental findings but no cleft lip or palate. This article is intended to create awareness about this rare syndrome and highlight the role of oral healthcare specialists in improving the quality of life for patients with EEC.

摘要

缺指(趾)-外胚层发育不全-腭裂(EEC)综合征是一种复杂的多效性疾病,可导致多种先天性异常,其临床表型不可预测,通常表现为常染色体显性遗传特征。本文介绍了一名19岁男性的少症状EEC综合征罕见病例,该患者有非典型牙齿表现,但无唇腭裂。本文旨在提高对这种罕见综合征的认识,并强调口腔保健专家在改善EEC患者生活质量方面的作用。

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Oral health considerations in a patient with oligosymptomatic ectrodactyly-ectodermal dysplasia-cleft syndrome.少症状性缺指(趾)-外胚层发育不良-腭裂综合征患者的口腔健康考量
Gen Dent. 2017 Mar-Apr;65(2):66-69.
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引用本文的文献

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Oral Symptoms and Oral Health-Related Quality of Life in People with Rare Diseases in Germany: A Cross-Sectional Study.德国罕见病患者的口腔症状和口腔健康相关生活质量:一项横断面研究。
Int J Environ Res Public Health. 2018 Jul 15;15(7):1493. doi: 10.3390/ijerph15071493.